ClinVar Miner

Submissions for variant NM_001099857.5(IKBKG):c.399+19G>C

gnomAD frequency: 0.00223  dbSNP: rs386134239
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030050 SCV000052705 uncertain Ectodermal dysplasia and immunodeficiency 1 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
GeneDx RCV001675585 SCV001893207 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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